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rs267606694

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606694(A;A)
Make rs267606694(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position63345479
GeneCA12
is asnp
is mentioned by
dbSNPrs267606694
dbSNP (classic)rs267606694
ClinGenrs267606694
ebirs267606694
HLIrs267606694
Exacrs267606694
Gnomadrs267606694
Varsomers267606694
LitVarrs267606694
Maprs267606694
PheGenIrs267606694
Biobankrs267606694
1000 genomesrs267606694
hgdprs267606694
ensemblrs267606694
geneviewrs267606694
scholarrs267606694
googlers267606694
pharmgkbrs267606694
gwascentralrs267606694
openSNPrs267606694
23andMers267606694
SNPshotrs267606694
SNPdbers267606694
MSV3drs267606694
GWAS Ctlgrs267606694
Max Magnitude0
ClinVar
Risk rs267606694(A;A)
Alt rs267606694(A;A)
Reference Rs267606694(G;G)
Significance Pathogenic
Disease Hyperchlorhidrosis
Variation info
Gene CA12
CLNDBN Hyperchlorhidrosis, isolated
Reversed 1
HGVS NC_000015.9:g.63637678C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006931.2,